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Items: 1 to 20 of 373

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099180copy number variation1nstd231human GRCh38.p12 chr1: 17,015,046-18,804,744 , GRCh37 chr1: 17,341,541-19,131,238 PAX7, SDHB, 19 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7052018inversion1nstd229human GRCh38 chr1: 18,722,705-18,726,607 , GRCh37.p13 chr1: 19,049,199-19,053,101 PAX7
    nsv7051511inversion1nstd229human GRCh38 chr1: 18,284,649-18,755,342 , GRCh37.p13 chr1: 18,611,143-19,081,836 DYNLL1P3, PAX7, 2 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv6646551copy number variation1nstd229human GRCh38 chr1: 18,696,701-18,700,200 , GRCh37.p13 chr1: 19,023,195-19,026,694 PAX7
    nsv6646549copy number variation1nstd229human GRCh38 chr1: 18,683,367-18,691,402 , GRCh37.p13 chr1: 19,009,861-19,017,896 PAX7
    nsv6646469copy number variation1nstd229human GRCh38 chr1: 18,726,910-18,730,324 , GRCh37.p13 chr1: 19,053,404-19,056,818 PAX7
    nsv6646383copy number variation1nstd229human GRCh38 chr1: 18,683,545-18,689,564 , GRCh37.p13 chr1: 19,010,039-19,016,058 PAX7
    nsv6646382copy number variation1nstd229human GRCh38 chr1: 18,671,619-18,675,263 , GRCh37.p13 chr1: 18,998,113-19,001,757 PAX7
    nsv6646349copy number variation1nstd229human GRCh38 chr1: 18,567,401-18,926,100 , GRCh37.p13 chr1: 18,893,895-19,252,594 ALDH4A1, PAX7, 4 more genes
    nsv6646325copy number variation1nstd229human GRCh38 chr1: 18,487,852-18,820,014 , GRCh37.p13 chr1: 18,814,346-19,146,508 PAX7, DYNLL1P3
    nsv6646303copy number variation1nstd229human GRCh38 chr1: 18,650,728-18,652,322 , GRCh37.p13 chr1: 18,977,222-18,978,816 PAX7
    nsv6646296copy number variation1nstd229human GRCh38 chr1: 18,644,101-18,653,300 , GRCh37.p13 chr1: 18,970,595-18,979,794 PAX7
    nsv6646256copy number variation1nstd229human GRCh38 chr1: 18,517,262-18,669,356 , GRCh37.p13 chr1: 18,843,756-18,995,850 PAX7
    nsv6646228copy number variation1nstd229human GRCh38 chr1: 18,661,533-18,665,759 , GRCh37.p13 chr1: 18,988,027-18,992,253 PAX7
    nsv6646163copy number variation1nstd229human GRCh38 chr1: 18,448,924-18,911,123 , GRCh37.p13 chr1: 18,775,418-19,237,617 KLHDC7A, MIR1290, 6 more genes
    nsv6646097copy number variation1nstd229human GRCh38 chr1: 18,694,649-18,760,899 , GRCh37.p13 chr1: 19,021,143-19,087,393 PAX7
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6327977copy number variation1nstd223human GRCh38 chr1: 18,479,814-18,749,966 , GRCh37.p13 chr1: 18,806,308-19,076,460 PAX7, DYNLL1P3, 1 more genes
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